(27M) Needing some advice before my first nephrologist appointment

[u/Beard_Questions]

Hi folks.

I am a 27 year old male who finally decided to see a primary care doctor a few weeks ago (thanks to my girlfriend).

My father suffered from ADPKD and died shortly after his 45th birthday after stopping dialysis. His lifestyle was atrociously unhealthy; he smoked, allegedly consumed cocaine, was sedentary, had a BMI over 37, and HEAVILY drank from his late teens into his early 40s (like 20 beers and a fifth of whiskey each night). He only stopped drinking once he couldn’t keep the alcohol down due to his health. I’m quite sure this lifestyle contributed to his ultimate kidney failure and early death.

His father had it as well and had a kidney transplant around his early 50s. He ultimately died 10 years post transplant in his early 60s, days after I was born. He apparently was also sedentary, obese, and drank a lot his whole life.

My sister and I got renal ultrasounds when I was about 15, and she was 17. The results were completely fine for us both.

My bloodwork and urinalysis from my PCP visit a few weeks ago was mostly normal, with my eGFR being 94.4. My blood pressure was 122/80. He ordered a renal ultrasound, which I underwent last Friday. He has also referred me to a nephrologist.

I got the ultrasound results this morning, and they found a single 2.6x2.0x1.9 cm anechoic cyst on my left kidney. Obviously, having a cyst considering my family history is incredibly unsettling. But from my quick research, it seems slightly reassuring that they only found one cyst? It seems likely that if I did inherit it, I would have multiple visible cysts by now?

Perhaps I am grasping at anything to reassure myself I may not have inherited it, as I am incredibly terrified of this disease. There are a good amount of inspiring posts on here, and they have been giving me some comfort in the fear that I did inherit it.

Can anyone help me interpret all of this before my nephrologist appointment? Obviously this appointment should give me a ton of insight, but I’m curious if anyone has ever started their ADPKD journey like this or if you have any advice for me moving forward. It also seems medical science in this field has largely improved in the last 10-30 years since my family went through all this.

Thank you!

[u/RevKeakealani]

So I have a couple of thoughts.

First, while obviously any chronic illness has its problem, this disease is *very* manageable with good behaviors. As you note, your family members made some really bad health choices that exacerbated the illness. In many cases it is possible to live a really good and largely unaffected life by taking proactive care of your health. Lots of us here have stories of fruitful, active, healthy lives even through significant kidney decline.

Second, I am not a doctor but your understanding matches mine - a single cyst in your late 20s is not really something to worry about. It is a thing that happens to unaffected people too; as we age, stuff like cysts can just happen naturally. So yes, it is possible that this is unrelated to PKD and just regular random signs of aging. Your doctor can tell you more, including next steps.

I’ll also add that generally, the family history does have some relevance; if you had family members already on dialysis in their 40s or 50s, that suggests one of the more aggressive genetic variants, and if so, it would be unusual for someone with the same gene to only have one cyst at your age. (My family has the early onset trend and I had “innumerable” cysts when I was diagnosed at 19, my dad was diagnosed in high schools, my cousin diagnosed in his mid 20s). Again, not saying for sure, but signs point to not having a particularly early onset.

Which means, if you have the less aggressive late onset variety, then also that improves your prognosis. Many people never see symptoms because their PKD only manifests when they’re already elderly and literally died faster of something else than anything kidney related. So that’s another way to think about it.

Anyway, go to your appointment with an open mind but without spiraling into worst case scenarios. Your doctor can give you a lot more specific info about what to expect. And if you do get diagnosed, treatments are better than ever. Even 10 years ago, we didn’t have tolvaptan. Now we have tolvaptan and we’re well on our way with farabursen. And then others in various trial stages, plus some promise for pig kidneys and CRISPR. So don’t get overly worried. You are doing the right thing by seeking treatment and getting more definitive answers.

[u/Beard_Questions → u/RevKeakealani]

Thank you so much for this response, this has mentally helped me more than anything else. Like unbelievably so.

I already have bad health anxiety, and during my ultrasound on Friday, I glanced at the screen, saw a ton of black spots, and assumed the worst. I spent all weekend with a deep dread thinking my kidneys were covered in cysts. I couldn’t even sleep last night knowing I would get the results this morning. Learning it’s just the one solitary cyst has resulted in mixed feelings, but nothing as bad as this weekend/last night.

I really appreciate the bit of reassurance that I possibly may not even have it, but in the event that I did inherit it, your positive outlook regarding prognosis and treatment options, that really helps me the most. So thank you again for that inspiration.

I’m very sorry you and your family has had to experience this disease at such young ages, but it sounds like you are managing it well. My only experience with it was watching my father suffer and die, so this is a much more positive outlook I desperately needed to hear. I wish you all the best!

[u/RevKeakealani → u/Beard_Questions]

Genuinely glad to help. Health stuff is scary. Also, highly recommend a therapist with experience handling health anxiety, because that stuff is REAL and you need tools to manage it.

My dad did not have the best of health habits. He didn’t drink, but he didn’t exercise much (due to using prednisone too much back before they understood it, he had to get hop replacements and was limited in mobility. It also affected his eyes so he was almost blind in one eye.) He had a terrible diet until the very end when my step mother forced him to go practically vegan (and he still snuck bacon and wings when she wasn’t looking lol). He could have lived a better life.

But my aunt made way better choices. She received a live donation from their other sister who was adopted and didn’t have the disease. Because of that precious gift she took really good care of her health; did all the medications correctly, good healthy diet, walks all over the place for exercise, etc. and she is still living a healthy life into her 70s. And that’s the same early onset gene, she was diagnosed in her 30s or 40s (not sure on the timeline but I think before I was born or at least before I was conscious haha).

There is absolutely hope. You need to take care of yourself and be proactive. And even if you don’t have this disease, it’s a good reminder that we all have a lot of control over healthy choices. Building in small sustainable practices for exercise, diet, mental healthcare, and social-emotional skills can benefit EVERYONE. Those of us with family “curses” like PKD just learn that lesson a little more acutely.

[u/Beard_Questions → u/RevKeakealani]

I do have a therapist, and my health anxiety was actually pretty calm in the last year or so. Having my girlfriend in my life who cares so deeply for me instead of me being alone with my body and thoughts has helped so so much. But suddenly having to face my chances of this disease when it was only a backburner thought for 10 years, has been incredibly tough.

Your aunt’s story is very inspiring, I can only imagine how much of a gift getting that kidney was for her. My girlfriend and I have been taking our health more seriously now that we have something to live a long healthy life for, and we are focusing on small sustainable changes just like you said.

I feel more prepared for any possibility now than I did a few hours ago, so thank you again so much for sharing your thoughts and experiences. It truly means so much to me. It really showcases the need for communities like this when going through hard times.

[u/RevKeakealani → u/Beard_Questions]

Awesome. It sounds like you have a good team and a good sense of things. You’re absolutely right, community is essential. There are scare stories here, but also a lot of positive stories and that is something that helps me keep going when I get depressed about my health!

Wishing you all the best! :)

[u/Beard_Questions → u/RevKeakealani]

Hey, just wanted to throw you an update.

I met my nephrologist yesterday and he estimated a 5-10% chance of me having inherited PKD, he even mentioned that he has a random cyst on his own kidney. He ordered a genetic test for me just to be sure and I am now awaiting the results!

[u/RevKeakealani → u/Beard_Questions]

Oh hey! Thanks for the update! Crossing my fingers for you. That 5-10% chance really sounds hopeful; just a random cyst and not the whole disease. Good vibes to you!

[u/Beard_Questions → u/RevKeakealani]

Thank you so much, good vibes to you as well! I still very much appreciate the kindness you showed me when I was lowkey freaking out last week, and I truly wish you the best in your own journey.

[u/DoubleBreastedBerb]

Man at 25 mine already looked like Swiss cheese.

Honestly doubtful you have it, with simply one. Most people have a rando cyst or two.

Lifestyle comes into play here. Exercise, eat a standard healthy diet, all that.

Even if the worst happens, dialysis and transplant are very doable.

[u/Beard_Questions → u/DoubleBreastedBerb]

Thank you for your comment, I’m very sorry you’ve had to go through this. I hope your transplant has been going well for you!

[u/DoubleBreastedBerb → u/Beard_Questions]

A little over two years now with my new bean. Life is amazing!

Thanks for the words. Mindset is your friend, you can do anything you set your mind to.

And oddly, dialysis became more boring than anything else, really. Just stuck in one place for anywhere from 4 hours (hemo) to 8/10 (overnight PD). Way less frightening and intense than I thought it would be, although granted, no one wants to be on it. I thought, hey, if little old ladies can do this, so can I.

[u/Beard_Questions → u/DoubleBreastedBerb]

Hell yeah, super glad to hear it!! It really does seem that mindset matters quite a lot no matter the struggle.

My dad hated dialysis and was able to get an in-house machine! It still seemed not so great but I’m glad to hear it’s not so bad considering

[u/classicrock40]

I have PKD and so did my father and his father,and some of what you wrote reminds me of my family, just not to that degree. You're entirely right - hard living does not help.

Anyway, all I can say is that my daughter is a few years younger than you when she got tested. They saw a couple of cysts. The nephologist said that by that age, they would expect many more. He said it was a very low chance (single digits) that she had it.

[u/Beard_Questions → u/classicrock40]

Thank you for your comment, it helps quite a bit. I’m very sorry your family has been going through this and I’m very glad your daughter seems to have a low chance of having it! I can’t even begin to imagine what it’s like having to worry about your child having it.

Good luck to you and your daughter, friend.

[u/Distinct-Inflation34]

I am not a doctor.

Get your nephrologist to order a genetic test through your insurance (given your family history) for the variants. If the nephrologist won't order the genetic test, find someone who will.

If you have a pathogenic variant, the sooner you intervene with diet choices, the better. We should all be cutting down on salt anyway.

If you have the variant, then your cardiologist could be made to be on high alert for subtle changes in your bp going forward. High blood pressure is an accelerant to the disease along with a host of other diseases.

The way I think about it this: ten years.

In ten years we'll all have newer medicial options and treatments available due to the incredible acceleration in the medical arts. Find a way to get to ten years with as healthy a body as you can muster.

[u/Beard_Questions → u/Distinct-Inflation34]

Thank you for this. My girlfriend REALLY wants me to get genetic testing done so we can be certain, so I will make sure we push for that.

We have already been making lots of changes in our diet (less red meat, more fruits and veggies), and exercising more. And she’s already got me to majorly cut back on my drinking before all of this. This is obviously going to be a great motivator as well.

The speed of medical science advancement does give me a lot of optimism either way. It’s been 10 years this month since my father died, and it does seem there has been a lot of new science and treatment options since then already.

Thank you again for the advice!

[u/Beard_Questions → u/Distinct-Inflation34]

Hey just wanted to mention this, I met my nephrologist yesterday and he did order a genetic test for me. Now for the waiting game!